Origins and impacts of regulatory mutations

Every human genome carries thousands of mutations, but only a handful actually cause disease—this research builds computational tools to find those few dangerous mutations hidden among harmless ones. The core problem is that DNA sequencing routinely turns up vast numbers of genetic changes in patients with rare disorders or cancer, and clinicians cannot tell which ones matter. For children with rare genetic diseases, the underlying mutation remains unknown in most cases. For cancer patients, a tumour may harbour thousands of mutations in overlapping patterns, making it difficult to identify which combinations drive tumour growth. If successful, this work will give clinicians a clearer signal amid the noise. For rare disease diagnosis, it could help identify the causative mutations in undiagnosed children. For cancer care, it could match patients to the most effective treatments and suggest new drug targets for under-studied tumour types. The research links academic scientists, NHS clinical staff, and industry partners, extracting new insights from existing sequencing data as well as generating fresh datasets. While the work is fundamentally curiosity-driven—aiming to understand the basic processes that generate disease-causing mutations as parents age or as tumours evolve—it is designed from the start to open new possibilities in current medical practice.